Correction of fragile X syndrome in mice

Gül Dölen, Emily Osterweil, B S Shankaranarayana Rao, Gordon B Smith, Benjamin D Auerbach, Sumantra Chattarji, Mark F Bear

Research output: Contribution to journalArticlepeer-review

Abstract

Fragile X syndrome (FXS) is the most common form of heritable mental retardation and the leading identified cause of autism. FXS is caused by transcriptional silencing of the FMR1 gene that encodes the fragile X mental retardation protein (FMRP), but the pathogenesis of the disease is unknown. According to one proposal, many psychiatric and neurological symptoms of FXS result from unchecked activation of mGluR5, a metabotropic glutamate receptor. To test this idea we generated Fmr1 mutant mice with a 50% reduction in mGluR5 expression and studied a range of phenotypes with relevance to the human disorder. Our results demonstrate that mGluR5 contributes significantly to the pathogenesis of the disease, a finding that has significant therapeutic implications for fragile X and related developmental disorders.
Original languageEnglish
Pages (from-to)955-62
Number of pages8
JournalNeuron
Volume56
Issue number6
DOIs
Publication statusPublished - 20 Dec 2007

Keywords

  • Acoustic Stimulation
  • Animals
  • Behavior, Animal
  • Disease Models, Animal
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome
  • Functional Laterality
  • Gene Expression Regulation
  • Heterozygote
  • Learning
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Multivariate Analysis
  • Neuronal Plasticity
  • Neurons
  • Phenotype
  • Receptors, Metabotropic Glutamate
  • Seizures
  • Visual Cortex

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